000089867 001__ 89867
000089867 005__ 20210902121714.0
000089867 0247_ $$2doi$$a10.1038/s41598-020-58741-w
000089867 0248_ $$2sideral$$a117706
000089867 037__ $$aART-2020-117706
000089867 041__ $$aeng
000089867 100__ $$aGonzález-Serna, D.
000089867 245__ $$aA cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease
000089867 260__ $$c2020
000089867 5060_ $$aAccess copy available to the general public$$fUnrestricted
000089867 5203_ $$aGenome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn’s disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5, 734 SSc patients, 4, 588 CD patients and 14, 568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two clinically distinct immune-mediated disorders. The fact that all these pleiotropic SNPs have opposite allelic effects in SSc and CD reveals the complexity of the molecular mechanisms by which polymorphisms affect diseases.
000089867 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII/RD16-0012-0013$$9info:eu-repo/grantAgreement/ES/MINECO/IPT-010000-2010-36$$9info:eu-repo/grantAgreement/ES/MINECO/SAF2015-66761-P
000089867 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000089867 590__ $$a4.379$$b2020
000089867 591__ $$aMULTIDISCIPLINARY SCIENCES$$b17 / 73 = 0.233$$c2020$$dQ1$$eT1
000089867 592__ $$a1.24$$b2020
000089867 593__ $$aMultidisciplinary$$c2020$$dQ1
000089867 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000089867 700__ $$aOchoa, E.
000089867 700__ $$aLópez-Isac, E.
000089867 700__ $$aJulià, A.
000089867 700__ $$aDegenhardt, F.
000089867 700__ $$aOrtego-Centeno, N.
000089867 700__ $$aRadstake, T.R.D.J.
000089867 700__ $$aFranke, A.
000089867 700__ $$aMarsal, S.
000089867 700__ $$aMayes, M.D.
000089867 700__ $$aMartín, J.
000089867 700__ $$aMárquez, A.
000089867 700__ $$aAssassi, S.
000089867 700__ $$aZhou, X.
000089867 700__ $$aTan, F.K.
000089867 700__ $$aArnett, F.C.
000089867 700__ $$aReveille, J.D.
000089867 700__ $$aGorlova, O.
000089867 700__ $$aChen, W.V.
000089867 700__ $$aYing, J.
000089867 700__ $$aGregersen, P.K.
000089867 700__ $$aLee, A.T.
000089867 700__ $$aVoskuyl, A.E.
000089867 700__ $$ade Vries-Bouwstra, J.
000089867 700__ $$aMagro-Checa, C.
000089867 700__ $$aBroen, J.
000089867 700__ $$aKoeleman, B.P.C.
000089867 700__ $$aSimeón, C.P.
000089867 700__ $$aFonollosa, V.
000089867 700__ $$aGuillén, A.
000089867 700__ $$aCarreira, P.
000089867 700__ $$aCastellví, I.
000089867 700__ $$aGonzález-Gay, M.A.
000089867 700__ $$aRíos, R.
000089867 700__ $$aCallejas-Rubio, J.L.
000089867 700__ $$aVargas-Hitos, J.A.
000089867 700__ $$aGarcía-Portales, R.
000089867 700__ $$aCamps, M.T.
000089867 700__ $$aFernández-Nebro, A.
000089867 700__ $$aGonzález-Escribano, M.F.
000089867 700__ $$aGarcía-Hernández, F.J.
000089867 700__ $$aCastillo, M.J.
000089867 700__ $$aAguirre, M.Á.
000089867 700__ $$aGómez-Gracia, I.
000089867 700__ $$aRodríguez-Rodríguez, L.
000089867 700__ $$aFernández-Gutiérrez, B.
000089867 700__ $$ade la Peña, P.G.
000089867 700__ $$aVicente, E.
000089867 700__ $$aAndreu, J.L.
000089867 700__ $$aFernández de Castro, M.
000089867 700__ $$aLópez-Longo, F.J.
000089867 700__ $$aMartínez, L.
000089867 700__ $$aEspinosa, G.
000089867 700__ $$aTolosa, C.
000089867 700__ $$aPros, A.
000089867 700__ $$aRodríguez-Carballeira, M.
000089867 700__ $$aNarváez, F.J.
000089867 700__ $$aRubio-Rivas, M.
000089867 700__ $$aOrtiz-Santamaría, V.
000089867 700__ $$aMadroñero, A.B.
000089867 700__ $$aDíaz, B.
000089867 700__ $$aTrapiella, L.
000089867 700__ $$aSousa, A.
000089867 700__ $$aEgurbide, M.V.
000089867 700__ $$aFanlo-Mateo, P.
000089867 700__ $$0(orcid)0000-0002-9868-6498$$aSáez-Comet, L.$$uUniversidad de Zaragoza
000089867 700__ $$aDíaz-González, F.
000089867 700__ $$aHernández, V.
000089867 700__ $$aBeltrán, E.
000089867 700__ $$aRomán-Ivorra, J.A.
000089867 700__ $$aGrau, E.
000089867 700__ $$aAlegre-Sancho, J.J.
000089867 700__ $$aBlanco-García, F.J.
000089867 700__ $$aOreiro, N.
000089867 700__ $$aFreire, M.
000089867 700__ $$aBalsa, A.
000089867 700__ $$aOrtiz, A.M.
000089867 700__ $$aHunzelmann, N.
000089867 700__ $$aRiemekasten, G.
000089867 700__ $$aDistler, J.H.W.
000089867 700__ $$aWitte, T.
000089867 700__ $$aAiró, P.
000089867 700__ $$aBeretta, L.
000089867 700__ $$aSantaniello, A.
000089867 700__ $$aBellocchi, C.
000089867 700__ $$aLunardi, C.
000089867 700__ $$aMoroncini, G.
000089867 700__ $$aGabrielli, A.
000089867 700__ $$aScleroderma, Genetic, Consortium
000089867 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000089867 773__ $$g10, 1 (2020), 1862 [11 pp.]$$pSci. rep.$$tScientific Reports$$x2045-2322
000089867 8564_ $$s2001987$$uhttps://zaguan.unizar.es/record/89867/files/texto_completo.pdf$$yVersión publicada
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000089867 951__ $$a2021-09-02-09:23:28
000089867 980__ $$aARTICLE